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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations
OBSOLETE: X-linked acrogigantism due to a point mutation
OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation